ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830145631
Gene: COL6A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476505.3:p.Glu1007Gln
CA2188967
NM_057164.5:c.3019G>C